Article
Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.
American journal of human genetics - 1 Aug 1999
Forestier L, Jean G, Attard M, Cherqui S, Lewis C, van't Hoff W, Broyer M, Town M, Antignac C
Abstract excerpt
Nephropathic cystinosis is an autosomal recessive disorder that is characterized by accumulation of intralysosomal cystine and is caused by a defect in the transport of cystine across the lysosomal membrane. Using a positional cloning strategy, we recently cloned the causative gene, CTNS, and identified pathogenic mutations, including deletions, that span the cystinosis locus. Two types of deletions were...
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